RYR1 c.14822T>G ;(p.F4941C)

Variant ID: 19-39076596-T-G

NM_000540.2(RYR1):c.14822T>G;(p.F4941C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular Disorders : Nmd
Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S
Publication Date: 2013-02

Variant appearance in text: RYR1: 14822T>G
PubMed Link: 23183335
Variant Present in the following documents:
  • Main text
View BVdb publication page